Gene: IDH2

Alternate names for this Gene: D2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDH

Gene Summary: Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: isocitrate dehydrogenase (NADP(+)) 2

Type of Gene: protein-coding

rs1057519906 in IDH2 gene and Brain Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519906 in IDH2 gene and Brain Stem Glioma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519906 in IDH2 gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913502 in IDH2 gene and D-2-HYDROXYGLUTARIC ACIDURIA 2 PMID 20847235 2010 IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

PMID 21889589 2011 A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.

rs1057519906 in IDH2 gene and GLIOMA SUSCEPTIBILITY 1 PMID 19228619 2009 IDH1 and IDH2 mutations in gliomas.

PMID 25495392 2015 IDH2 mutation in gliomas including novel mutation.

rs1057519736 in IDH2 gene and Leukemia, Myelocytic, Acute PMID 24606448 2014 Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients.

PMID 22417203 2012 Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.

PMID 22160010 2011 Impact of genetic features on treatment decisions in AML.

PMID 22898539 2012 The role of mutations in epigenetic regulators in myeloid malignancies.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 23815907 2013 There were 9 AML patients with R140Q mutation, 1 patient with R140W mutation, and 1 patient with R172K mutation.

PMID 22397365 2012 Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients.

PMID 23949315 2013 Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 23558173 2013 Targeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiation.

PMID 20946881 2010 Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).

PMID 21250968 2011 Evaluation of mutations in the isocitrate dehydrogenase genes in therapy-related and secondary acute myeloid leukaemia identifies a patient with clonal evolution to IDH2 R172K homozygosity due to uniparental disomy.

PMID 22616558 2012 Potential application of IDH1 and IDH2 mutations as prognostic indicators in non-promyelocytic acute myeloid leukemia: a meta-analysis.

PMID 23949315 2013 Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.

PMID 21596855 2011 The prognostic significance of IDH2 mutations in AML depends on the location of the mutation.

PMID 20946881 2010 We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene.

rs1057519906 in IDH2 gene and Liver carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913502 in IDH2 gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913502 in IDH2 gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913502 in IDH2 gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.